JSON

intellectual disability-cataracts-kyphosis syndrome

^ http://purl.obolibrary.org/obo/MONDO_0015752

This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence. [ Orphanet:171860 ]

Term info

database cross reference
  • UMLS:CN226733 (MONDO:equivalentTo)
  • Orphanet:171860 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5588

definition

This syndrome is characterized by severe intellectual deficit, kyphosis with onset in childhood and cataract with onset in late adolescence.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN226733, http://purl.obolibrary.org/obo/Orphanet_171860

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

id

MONDO:0015752

Term relations